Literature DB >> 19300973

Diagnostic algorithm for the differentiation of leukodystrophies in early MS.

Wolfgang Köhler1.   

Abstract

Leukodystrophies are chronic progressive inherited white matter diseases frequently combined with an inborn error of metabolism. Some leukodystrophies clinically resemble chronic variants of multiple sclerosis (MS), while others exhibit multifocal MRI changes mimicking white matter changes known from MS imaging studies. The risk of misdiagnosing leukodystrophy as being MS is especially high in early disease stages comprising the possibility of initiating an inadequate therapy. Patients with clinical isolated syndromes should carefully be screened for positive family history, atypical clinical presentation or MRI pattern, symmetric involvement of long spinal tracts and peripheral nerves using evoked potentials and nerve conduction velocities and lack of oligoclonal bands in CSF all of which are "red flags" which consecutively may implicate consideration of leukodystrophy. Genetic or biochemical testing is widely available giving rise to a specific diagnosis in most patients.

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Year:  2008        PMID: 19300973     DOI: 10.1007/s00415-008-6023-9

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  22 in total

1.  Visual and motor evoked potentials in the course of multiple sclerosis.

Authors:  P Fuhr; A Borggrefe-Chappuis; C Schindler; L Kappos
Journal:  Brain       Date:  2001-11       Impact factor: 13.501

2.  Multimodal evoked potential studies in leukodystrophies of children.

Authors:  L J De Meirleir; M J Taylor; W J Logan
Journal:  Can J Neurol Sci       Date:  1988-02       Impact factor: 2.104

Review 3.  Magnetic resonance techniques in the assessment of myelin and myelination.

Authors:  A J Barkovich
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  Nerve conduction studies in adrenomyeloneuropathy.

Authors:  V Chaudhry; H W Moser; D R Cornblath
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-08       Impact factor: 10.154

Review 5.  Krabbe disease: neurophysiologic studies and MRI correlations.

Authors:  Aatif M Husain; Maha Altuwaijri; Mohammed Aldosari
Journal:  Neurology       Date:  2004-08-24       Impact factor: 9.910

6.  Adult-onset metachromatic leukodystrophy presenting as isolated peripheral neuropathy.

Authors:  C Fressinaud; J M Vallat; M Masson; M O Jauberteau; N Baumann; J Hugon
Journal:  Neurology       Date:  1992-07       Impact factor: 9.910

7.  Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.

Authors:  Volkmar Gieselmann
Journal:  Acta Paediatr       Date:  2008-04       Impact factor: 2.299

8.  Interobserver agreement for diagnostic MRI criteria in suspected multiple sclerosis.

Authors:  F Barkhof; M Filippi; J H van Waesberghe; A Campi; D H Miller; H J Adèr
Journal:  Neuroradiology       Date:  1999-05       Impact factor: 2.804

9.  Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis.

Authors:  W I McDonald; A Compston; G Edan; D Goodkin; H P Hartung; F D Lublin; H F McFarland; D W Paty; C H Polman; S C Reingold; M Sandberg-Wollheim; W Sibley; A Thompson; S van den Noort; B Y Weinshenker; J S Wolinsky
Journal:  Ann Neurol       Date:  2001-07       Impact factor: 10.422

Review 10.  Leukoencephalopathies associated with inborn errors of metabolism in adults.

Authors:  F Sedel; A Tourbah; B Fontaine; C Lubetzki; N Baumann; J-M Saudubray; O Lyon-Caen
Journal:  J Inherit Metab Dis       Date:  2008-02-25       Impact factor: 4.750

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  4 in total

Review 1.  [Demyelinating disorders].

Authors:  T Weber; W Köhler
Journal:  Nervenarzt       Date:  2010-04       Impact factor: 1.214

Review 2.  The current role of MRI in differentiating multiple sclerosis from its imaging mimics.

Authors:  Ruth Geraldes; Olga Ciccarelli; Frederik Barkhof; Nicola De Stefano; Christian Enzinger; Massimo Filippi; Monika Hofer; Friedemann Paul; Paolo Preziosa; Alex Rovira; Gabriele C DeLuca; Ludwig Kappos; Tarek Yousry; Franz Fazekas; Jette Frederiksen; Claudio Gasperini; Jaume Sastre-Garriga; Nikos Evangelou; Jacqueline Palace
Journal:  Nat Rev Neurol       Date:  2018-03-09       Impact factor: 42.937

3.  A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Authors:  Feyza Nur Tuncer; Sibel Aylin Ugur Iseri; Zuhal Yapici; Mahmut Demir; Meryem Karaca; Mustafa Calik
Journal:  Neurol Sci       Date:  2018-09-12       Impact factor: 3.307

4.  The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.

Authors:  Yu Tong Huang; Paul S Giacomini; Rami Massie; Sunita Venkateswaran; Anne-Marie Trudelle; Giulia Fadda; Maryam Sharifian-Dorche; Hayet Boudjani; Laurence Poliquin-Lasnier; Laura Airas; Alexander W Saveriano; Matthias Georg Ziller; Elka Miller; Claudia Martinez-Rios; Nagwa Wilson; Jorge Davila; Carolina Rush; Erin E Longbrake; Giulia Longoni; Gabrielle Macaron; Geneviève Bernard; Donatella Tampieri; Jack Antel; Bernard Brais; Roberta La Piana
Journal:  Front Neurol       Date:  2022-07-25       Impact factor: 4.086

  4 in total

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